Sugi Variant

Sugi Variant/CHRNB4

CHRNB4 — 62 ClinVar variants

All ClinVar germline CHRNB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 8 Benign · 8 Likely benign · 43 Uncertain significance

Full CHRNB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 24

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 24

The independent predictors disagree with each other — read with care.

All CHRNB4 variants

Pathogenic 1

  • p.Val471Leu No assertion criteria chronic obstructive pulmonary disease ⚠

Likely pathogenic 2

  • p.Leu60Phe No assertion criteria frontotemporal dementia
  • p.Val220Met No assertion criteria frontotemporal dementia ⚠

Benign 8

Likely benign 8

Uncertain significance 43